Hypochondroplasia

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Hypochondroplasia is not the name you expected.

Disorder Subdivisions

None

General Discussion

Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (short-limbed dwarfism). Short stature often is not recognized until early to mid childhood or, in some cases, as late as adulthood. In those with the disorder, bowing of the legs typically develops during early childhood but often improves spontaneously with age. Some affected individuals may also have an abnormally large head (macrocephaly), a relatively prominent forehead, and/or other physical abnormalities associated with the disorder. In addition, in about 10 percent of cases, mild mental retardation may be present.

In some cases, hypochondroplasia appears to occur randomly for unknown reasons (sporadically) with no apparent family history. In other instances, the disorder is familial with autosomal dominant inheritance.

Supporting Organizations

European Skeletal Dysplasia Network

Institute of Genetic Medicine

Newcastle University

Newcastle upon Tyne, NE1 3BZ

United Kingdom

Tel: 441612755642

Fax: 441612755082

Email: info@esdn.org

Website: http://www.esdn.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Human Growth Foundation

997 Glen Cove Avenue

Suite 5

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Website: http://www.hgfound.org/

Little People of America, Inc.

250 El Camino Real Suite 201

Tustin, CA 92780

Tel: (714)368-3689

Fax: (714)368-3367

Tel: (888)572-2001

Email: info@lpaonline.org

Website: http://www.lpaonline.org/

MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Website: http://www.magicfoundation.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

Email: NIAMSinfo@mail.nih.gov

Website: http://www.niams.nih.gov/

Restricted Growth Association

PO Box 5137

Yeovil, BA20 9FF

United Kingdom

Tel: 3001111970

Fax: 3001112454

Email: office@restrictedgrowth.co.uk

Website: http://www.restrictedgrowth.co.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 9/17/2007Copyright 2007 National Organization for Rare Disorders, Inc.

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